Incidental Mutation 'IGL01578:Stx3'
| ID |
91325 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stx3
|
| Ensembl Gene |
ENSMUSG00000041488 |
| Gene Name |
syntaxin 3 |
| Synonyms |
syntaxin 3A, Syn-3, syntaxin 3B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11752482-11796767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11763969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 129
(E129G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047698]
[ENSMUST00000069285]
[ENSMUST00000075304]
[ENSMUST00000211047]
[ENSMUST00000211641]
|
| AlphaFold |
Q64704 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047698
|
| SMART Domains |
Protein: ENSMUSP00000037317
Gene: ENSMUSG00000041488
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
27 |
146 |
5.39e-41 |
SMART |
|
t_SNARE
|
186 |
253 |
1.07e-19 |
SMART |
|
transmembrane domain
|
265 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069285
AA Change: E129G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488
AA Change: E129G
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
27 |
146 |
5.39e-41 |
SMART |
|
t_SNARE
|
186 |
253 |
6.87e-18 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075304
AA Change: E129G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488
AA Change: E129G
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
27 |
128 |
1.13e-16 |
SMART |
|
t_SNARE
|
168 |
235 |
1.07e-19 |
SMART |
|
transmembrane domain
|
247 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210481
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211047
AA Change: E129G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211089
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211641
AA Change: E111G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
| Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Stx3
|
APN |
19 |
11,769,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02086:Stx3
|
APN |
19 |
11,796,046 (GRCm39) |
splice site |
probably benign |
|
|
IGL02487:Stx3
|
APN |
19 |
11,760,469 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0124:Stx3
|
UTSW |
19 |
11,769,163 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0573:Stx3
|
UTSW |
19 |
11,763,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Stx3
|
UTSW |
19 |
11,762,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Stx3
|
UTSW |
19 |
11,766,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2869:Stx3
|
UTSW |
19 |
11,766,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2870:Stx3
|
UTSW |
19 |
11,766,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2870:Stx3
|
UTSW |
19 |
11,766,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2874:Stx3
|
UTSW |
19 |
11,766,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4864:Stx3
|
UTSW |
19 |
11,754,515 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6156:Stx3
|
UTSW |
19 |
11,780,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Stx3
|
UTSW |
19 |
11,767,412 (GRCm39) |
nonsense |
probably null |
|
|
R7443:Stx3
|
UTSW |
19 |
11,769,208 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2013-12-09 |
Incidental Mutation